Publications:

---

High concordance rate of capillary electrophoresis workflow for microsatellite instability analysis and mismatch repair (MMR) immunostaining in colorectal carcinoma.

Plos One

Huang, Wenya W; Ho, Chung-Liang CL; Lee, Chung-Ta CT; Chen, Wan-Li WL; Yang, Shu-Ching SC; Chow, Nan-Haw NH; Chen, Yi-Lin YL

Publication Date: 2023

Variant appearance in text: MLH1: 755C>A

PubMed Link: 37098015

Variant Present in the following documents:

• Main text
• pone.0284227.pdf

View BVdb publication page

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MLH1: 755C>A; Ser252Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: MLH1: S252*

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

View BVdb publication page

---

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MLH1: 755C>A; Ser252Ter; rs63750198

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

---

Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One

Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R

Publication Date: 2021

Variant appearance in text: MLH1: S252*

PubMed Link: 33556149

Variant Present in the following documents:

• pone.0246048.s006.xlsx, sheet 1

View BVdb publication page

---

Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.

The Journal Of Pathology

Aguilar, Mitzi M; Zhang, He H; Zhang, Musi M; Cantarell, Brandi B; Sahoo, Subhransu S SS; Li, Hao-Dong HD; Cuevas, Ileana C IC; Lea, Jayanthi J; Miller, David S DS; Chen, Hao H; Zheng, Wenxin W; Gagan, Jeffrey J; Lucas, Elena E; Castrillon, Diego H DH

Publication Date: 2021-05

Variant appearance in text: MLH1: S252*

PubMed Link: 33506979

Variant Present in the following documents:

• PATH-254-20-s005.xlsx, sheet 2

View BVdb publication page

---

Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.

The Journal Of Pathology

Aguilar, Mitzi M; Zhang, He H; Zhang, Musi M; Cantarell, Brandi B; Sahoo, Subhransu S SS; Li, Hao-Dong HD; Cuevas, Ileana C IC; Lea, Jayanthi J; Miller, David S DS; Chen, Hao H; Zheng, Wenxin W; Gagan, Jeffrey J; Lucas, Elena E; Castrillon, Diego H DH

Publication Date: 2021-05

Variant appearance in text: MLH1: S252*

PubMed Link: 33506979

Variant Present in the following documents:

• PATH-254-20-s005.xlsx, sheet 2

View BVdb publication page

---

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: MLH1: S252X

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: MLH1: S252*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.

International Journal Of Cancer

Vos, Janet R JR; Fakkert, Ingrid E IE; Spruijt, Liesbeth L; Willems, Riki W RW; Langenveld, Sera S; Mensenkamp, Arjen R AR; Leter, Edward M EM; Nagtegaal, Iris D ID; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; ,

Publication Date: 2020-10-15

Variant appearance in text: MLH1: 755C>A; Ser252*

PubMed Link: 32510614

Variant Present in the following documents:

• IJC-147-2150-s001.pdf

View BVdb publication page

---

False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One

Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM

Publication Date: 2019

Variant appearance in text: MLH1: 755C>A; S252*

PubMed Link: 31513681

Variant Present in the following documents:

• pone.0222535.s006.xlsx, sheet 1

View BVdb publication page

---

Workflow optimization of whole genome amplification and targeted panel sequencing for CTC mutation detection.

Npj Genomic Medicine

Liu, Haiyan E HE; Triboulet, Melanie M; Zia, Amin A; Vuppalapaty, Meghah M; Kidess-Sigal, Evelyn E; Coller, John J; Natu, Vanita S VS; Shokoohi, Vida V; Che, James J; Renier, Corinne C; Chan, Natalie H NH; Hanft, Violet R VR; Jeffrey, Stefanie S SS; Sollier-Christen, Elodie E

Publication Date: 2017

Variant appearance in text: MLH1: S252*

PubMed Link: 29263843

Variant Present in the following documents:

• Main text
• 41525_2017_Article_34.pdf

View BVdb publication page

---

Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Molecular Cancer

Berg, Kaja C G KCG; Eide, Peter W PW; Eilertsen, Ina A IA; Johannessen, Bjarne B; Bruun, Jarle J; Danielsen, Stine A SA; Bjørnslett, Merete M; Meza-Zepeda, Leonardo A LA; Eknæs, Mette M; Lind, Guro E GE; Myklebost, Ola O; Skotheim, Rolf I RI; Sveen, Anita A; Lothe, Ragnhild A RA

Publication Date: 2017-07-06

Variant appearance in text: rs63750198

PubMed Link: 28683746

Variant Present in the following documents:

• 12943_2017_691_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MLH1: 755C>A; Ser252Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Can Microsatellite Status of Colorectal Cancer Be Reliably Assessed after Neoadjuvant Therapy?

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Goldstein, Jennifer B JB; Wu, William W; Borras, Ester E; Masand, Gita G; Cuddy, Amanda A; Mork, Maureen E ME; Bannon, Sarah A SA; Lynch, Patrick M PM; Rodriguez-Bigas, Miguel M; Taggart, Melissa W MW; Wu, Ji J; Scheet, Paul P; Kopetz, Scott S; You, Y Nancy YN; Vilar, Eduardo E

Publication Date: 2017-09-01

Variant appearance in text: MLH1: 755C>A

PubMed Link: 28522602

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: MLH1: 755C>A; S252*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

---

Long-lasting reduction in clonogenic potential of colorectal cancer cells by sequential treatments with 5-azanucleosides and topoisomerase inhibitors.

Bmc Cancer

Pawlak, Alicja A; Ziolo, Ewa E; Fiedorowicz, Anna A; Fidyt, Klaudyna K; Strzadala, Leon L; Kalas, Wojciech W

Publication Date: 2016-11-16

Variant appearance in text: MLH1: S252*

PubMed Link: 27852227

Variant Present in the following documents:

• Main text
• 12885_2016_Article_2925.pdf

View BVdb publication page

---

The ratio of STAT1 to STAT3 expression is a determinant of colorectal cancer growth.

Oncotarget

Nivarthi, Harini H; Gordziel, Claire C; Themanns, Madeleine M; Kramer, Nina N; Eberl, Markus M; Rabe, Björn B; Schlederer, Michaela M; Rose-John, Stefan S; Knösel, Thomas T; Kenner, Lukas L; Freund, Patricia P; Aberger, Fritz F; Han, Xiaonan X; Kralovics, Robert R; Dolznig, Helmut H; Jennek, Susanne S; Friedrich, Karlheinz K; Moriggl, Richard R

Publication Date: 2016-08-09

Variant appearance in text: MLH1: S252*

PubMed Link: 27191495

Variant Present in the following documents:

• oncotarget-07-51096-s001.pdf

View BVdb publication page

---

Target enrichment using parallel nanoliter quantitative PCR amplification.

Bmc Genomics

De Wilde, Bram B; Lefever, Steve S; Dong, Wes W; Dunne, Jude J; Husain, Syed S; Derveaux, Stefaan S; Hellemans, Jan J; Vandesompele, Jo J

Publication Date: 2014-03-10

Variant appearance in text: MLH1: 755C>A; S252*

PubMed Link: 24612714

Variant Present in the following documents:

• Main text
• 1471-2164-15-184.pdf

View BVdb publication page

---

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

The Journal Of Molecular Diagnostics : Jmd

Pritchard, Colin C CC; Smith, Christina C; Salipante, Stephen J SJ; Lee, Ming K MK; Thornton, Anne M AM; Nord, Alex S AS; Gulden, Cassandra C; Kupfer, Sonia S SS; Swisher, Elizabeth M EM; Bennett, Robin L RL; Novetsky, Akiva P AP; Jarvik, Gail P GP; Olopade, Olufunmilayo I OI; Goodfellow, Paul J PJ; King, Mary-Claire MC; Tait, Jonathan F JF; Walsh, Tom T

Publication Date: 2012-07

Variant appearance in text: MLH1: 755C>A

PubMed Link: 22658618

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours.

Human Molecular Genetics

Velho, Sérgia S; Oliveira, Carla C; Paredes, Joana J; Sousa, Sónia S; Leite, Marina M; Matos, Paulo P; Milanezi, Fernanda F; Ribeiro, Ana Sofia AS; Mendes, Nuno N; Licastro, Danilo D; Karhu, Auli A; Oliveira, Maria José MJ; Ligtenberg, Marjolijn M; Hamelin, Richard R; Carneiro, Fátima F; Lindblom, Annika A; Peltomaki, Paivi P; Castedo, Sérgio S; Schwartz, Simó S; Jordan, Peter P; Aaltonen, Lauri A LA; Hofstra, Robert M W RM; Suriano, Gianpaolo G; Stupka, Elia E; Fialho, Arsenio M AM; Seruca, Raquel R

Publication Date: 2010-02-15

Variant appearance in text: MLH1: 755C>A

PubMed Link: 19955118

Variant Present in the following documents:

• Main text

View BVdb publication page

---